Bilateral anophthalmia with septo-optic dysplasia

Abstract

Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype

“…Environmental factors such as maternal vitamin A deficiency and exposure to infections, viruses or toxins during pregnancy have been linked to eye malformations, however, the extent of their contribution to MAC remains to be clarified (Busby, et al, 2005; Hornby, et al, 2002; Jana and Sharma, 2010). Familial clustering of the conditions has implicated a significant genetic component whereby microphthalmia, anophthalmia or coloboma are occasionally found to be present in different eyes of the same individual or within different individuals of the same family (Francois and Haustrate-Gosset, 1976).…”

Anoftalmia congénita bilateral: reporte de caso y revisión de la literatura

“…En la literatura se han reportado pocos casos de asociación de anoftalmia con varios síndromes, tales como Fraser 8 , Waardenburg 9 , triploidía, Morsier, Patau (trisomía 13), Edwards (trisomía 18), Wolf-Hirschhorn 10,11 , cerebro-óculo-nasal 12 y CHARGE 13 , con el complejo de Sokoda 14 y también, en un caso, con la presencia de quiste dermoide orbitario 15 . Sin embargo, estas asociaciones son muy poco frecuentes y no están documentadas en la literatura, lo cual hace que sea difícil conocer con certeza la totalidad de los pacientes que las presentan.…”